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Updated: Jan 14, 2026

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揭开婴儿期后诊断的感觉神经听力损失的遗传基础,使用全外体测序

Weitao Li1, Sha Yu1, Biyun Zhu2

  • 1ENT Institute and Department of Otorhinolaryngology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China; NHC Key Laboratory of Hearing Medicine, Shanghai 200031, China; Shanghai Key Laboratory of Gene Editing and Cell Therapy for Rare Diseases, Fudan University, Shanghai 200031, China.

Hearing research
|October 20, 2025
PubMed
概括

这项研究调查了在婴儿期后诊断的中国患者听力损失的遗传原因. 整体外因子测序发现了像GJB2这样的常见变异,有助于对神经感官听力损失的基因测试.

关键词:
在GJB2中,GJB2是什么?在婴儿期后诊断出听力损失.变体分析 变体分析整体外基因组测序的测序

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